Variant report

Variant	rs12743941
Chromosome Location	chr1:172541008-172541009
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:172536299..172538930-chr1:172539967..172542813,2	MCF-7	breast:
2	chr1:172499376..172501724-chr1:172539037..172541418,2	K562	blood:
3	chr1:172540565..172542685-chr1:172550671..172552538,2	K562	blood:

Variant related genes	Relation type
ENSG00000094975	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872547	chr1:172511969-172545832	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv872548	chr1:172518012-172551724	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3440967	chr1:172539754-172542702	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3333755	chr1:172540179-172542427	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3392199	chr1:172540479-172541927	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172511800-172557800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:172514200-172558800	Weak transcription	Small Intestine	intestine
3	chr1:172516800-172550200	Weak transcription	Fetal Heart	heart
4	chr1:172519200-172559000	Weak transcription	Psoas Muscle	Psoas
5	chr1:172519400-172571600	Weak transcription	Brain Angular Gyrus	brain
6	chr1:172521800-172560400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:172527000-172558000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:172527800-172550400	Weak transcription	Stomach Mucosa	stomach
9	chr1:172527800-172554600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:172528400-172543000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:172528400-172547800	Weak transcription	A549	lung
12	chr1:172534800-172558000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:172535200-172547800	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:172535200-172558000	Weak transcription	HSMMtube	muscle
15	chr1:172535400-172554200	Weak transcription	NHEK	skin
16	chr1:172535400-172558000	Weak transcription	Left Ventricle	heart
17	chr1:172535400-172558000	Weak transcription	Right Ventricle	heart
18	chr1:172535400-172558200	Weak transcription	Brain Substantia Nigra	brain
19	chr1:172535600-172546400	Weak transcription	HepG2	liver
20	chr1:172535600-172558000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:172535600-172569200	Weak transcription	Gastric	stomach
22	chr1:172535800-172542400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:172536000-172558000	Weak transcription	Fetal Stomach	stomach
24	chr1:172536000-172565400	Weak transcription	Ovary	ovary
25	chr1:172536000-172565600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:172536000-172566000	Weak transcription	Aorta	Aorta
27	chr1:172537400-172565600	Weak transcription	Lung	lung
28	chr1:172538800-172547600	Weak transcription	Hela-S3	cervix
29	chr1:172539000-172543400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr1:172539800-172541600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:172539800-172550800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr1:172540200-172542000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:172540200-172542000	Weak transcription	HSMM	muscle
34	chr1:172540200-172543200	Weak transcription	Osteobl	bone
35	chr1:172540200-172543800	Weak transcription	Brain Germinal Matrix	brain
36	chr1:172540200-172544000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:172540200-172547400	Weak transcription	Fetal Brain Male	brain
38	chr1:172540200-172548200	Weak transcription	NHDF-Ad	bronchial
39	chr1:172540200-172550800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr1:172540200-172557400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:172540200-172558000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr1:172540200-172581000	Weak transcription	Colonic Mucosa	Colon
43	chr1:172540400-172541800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:172540400-172541800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:172540400-172541800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:172540400-172541800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:172540400-172541800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:172540400-172541800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr1:172540400-172541800	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr1:172540400-172541800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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